Release 4B Snapshot #1

This page is part of the FHIR Specification (v4.3.0-snapshot1: Release 4B Snapshot #1). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R4B R4 R3

Extension Gene - Detailed Descriptions

Orders and Observations Work Group Maturity Level: 1InformativeUse Context: Any

Detailed Descriptions for the elements in the extension.

Extension
Element IdExtension
Definition

A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions (SO:0000704). This element is the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name (HGNC). LOINC Code: (48018-6).

Cardinality0..1 This element is affected by the following invariants: ele-1
Comments

Other systems or genes not defined in HGNC (e.g., BCR-ABL fusion gene) can be added by using a local extension.

Invariants
Inherited by this element
ele-1RuleAll FHIR elements must have a @value or children unless an empty Parameters resourcehasValue() or (children().count() > id.count()) or $this is Parameters
ext-1RuleMust have either extensions or value[x], not bothextension.exists() != value.exists()
Extension.id
Element IdExtension.id
Definition

Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.

Cardinality0..1
Typestring
Extension.extension
Element IdExtension.extension
Definition

An Extension

Cardinality0..0
TypeExtension
Invariants
Inherited by this element
ele-1RuleAll FHIR elements must have a @value or childrenhasValue() or (children().count() > id.count())
ext-1RuleMust have either extensions or value[x], not bothextension.exists() != value.exists()
SlicingThis element introduces a set of slices. The slicing rules are:
  • unordered
  • Open
  • discriminators: value:url
Extension.url
Element IdExtension.url
Definition

Source of the definition for the extension code - a logical name or a URL.

Cardinality1..1
Typeuri
Comments

The definition may point directly to a computable or human-readable definition of the extensibility codes, or it may be a logical URI as declared in some other specification. The definition SHALL be a URI for the Structure Definition defining the extension.

Fixed Valuehttp://hl7.org/fhir/StructureDefinition/observation-geneticsGene
Extension.value[x]
Element IdExtension.value[x]
Definition

Value of extension - must be one of a constrained set of the data types (see Extensibility for a list).

Cardinality1..1
Terminology BindingGene Identifiers Reference
The codes SHOULD be taken from HGNC
TypeCodeableConcept
[x] NoteSee Choice of Data Types for further information about how to use [x]
Invariants
Inherited by this element
ele-1RuleAll FHIR elements must have a @value or childrenhasValue() or (children().count() > id.count())